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Dysphagia with muscle dystrophy

P H Jonson, J Palmio, M Johari, S Penttilä, A Evilä, I Nelson, G Bonne, N Wiart, V Meyer, A Boland, J-F Deleuze, C Masson, T Stojkovic, F Chapon, N B Romero, G Solé, X Ferrer, A Ferreiro, P Hackman, I Richard, B Udd
BACKGROUND AND PURPOSE: The aim was to determine the genetic background of unknown muscular dystrophy in five French families. METHODS: Twelve patients with limb girdle muscular dystrophy or distal myopathy were clinically evaluated. Gene mutations were identified using targeted exon sequencing and mutated DNAJB6 was tested in vitro. RESULTS: Five patients presented with distal lower limb weakness whilst others had proximal presentation with a variable rate of progression starting at the mean age of 38...
May 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Simona Salera, Francesca Menni, Maurizio Moggio, Sophie Guez, Monica Sciacco, Susanna Esposito
Neuromuscular diseases (NMDs) represent a heterogeneous group of acquired or inherited conditions. Nutritional complications are frequent in NMDs, but they are sometimes underestimated. With the prolongation of survival in patients with NMDs, there are several nutritional aspects that are important to consider, including the deleterious effects of overnutrition on glucose metabolism, mobility, and respiratory and cardiologic functions; the impact of hyponutrition on muscle and ventilatory function; constipation and other gastrointestinal complications; chewing/swallowing difficulties with an increased risk of aspiration that predisposes to infectious diseases and respiratory complications; as well as osteoporosis with an associated increased risk of fractures...
June 10, 2017: Nutrients
Jerry R Mendell, Zarife Sahenk, Samiah Al-Zaidy, Louise R Rodino-Klapac, Linda P Lowes, Lindsay N Alfano, Katherine Berry, Natalie Miller, Mehmet Yalvac, Igor Dvorchik, Melissa Moore-Clingenpeel, Kevin M Flanigan, Kathleen Church, Kim Shontz, Choumpree Curry, Sarah Lewis, Markus McColly, Mark J Hogan, Brian K Kaspar
Sporadic inclusion body myositis, a variant of inflammatory myopathy, has features distinct from polymyositis/dermatomyositis. The disease affects men more than women, most commonly after age 50. Clinical features include weakness of the quadriceps, finger flexors, ankle dorsiflexors, and dysphagia. The distribution of weakness is similar to Becker muscular dystrophy, where we previously reported improvement following intramuscular injection of an isoform of follistatin (FS344) by AAV1. For this clinical trial, rAAV1...
April 5, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
Helena Baptista, Inês Lopes Cardoso
Steinert syndrome, also called myotonic dystrophy type 1, is a genetic disorder with autosomal dominant transmission characterized by myotonia and a multisystemic clinical picture that affects several tissues of the human body. The most common systemic phenotypes are: muscular, cardiac, respiratory, CNS, ocular, gynecological, digestive, orthopedical, as well as cognitive and psychological symptoms (cognitive decline). Muscles involved in voluntary movement are highly affected by myotonia especially distal muscles of upper limbs...
March 2017: Archives of Oral Biology
Marisa Cruz-Aguilar, Caroline Guerrero-de Ferran, Jose Luis Tovilla-Canales, Angel Nava-Castañeda, Juan C Zenteno
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal-dominant, adult-onset disorder defined by blepharoptosis, dysphagia, and proximal muscle weakness. OPMD arises from heterozygous expansions of a trinucleotide (GCN) tract situated at the 5' region of the polyadenylate RNA binding protein 1 ( PABPN1 ) gene. The frequency of a particular (GCN) expansion in a given population of patients with OPMD is largely influenced by the occurrence of founder mutations. Analysis of large groups of patients with OPMD from different ethnic origins will help to estimate the relative contribution of each expanded allele to the disease...
March 2017: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
Lenie Van Den Engel-Hoek, Marloes Lagarde, Nens Van Alfen
Patients with neuromuscular disorders often present with swallowing difficulties due to oral phase problems and pharyngeal residue after swallow. It is important to assess the underlying pathology and cause of the swallowing disturbance in this patient group, such as dystrophic changes in oral and masticatory muscles. This allows for more patient-tailored recommendations, for example optimal compensation strategies to maintain function for longer. Ultrasound can show structural changes caused by dystrophy or denervation of muscles, detect involuntary movements such as fasciculations, and provide dynamic video images of tongue motion during swallowing attempts...
March 2017: Clinical Anatomy
B M van der Sluijs, V Raz, M Lammens, L P van den Heuvel, N C Voermans, B G M van Engelen
BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) has long been characterized by a combination of bilateral ptosis and dysphagia and subsequent limb girdle weakness. The role of the typical intranuclear inclusion in the pathophysiology is unresolved. OBJECTIVE: The aim of this study was to describe the clinical and histopathological features of oculopharyngeal muscular dystrophy (OPMD). We examined this in a Dutch cohort including presymptomatic Ala-expanded-PABPN1 carriers and late symptomatic patients...
March 3, 2016: Journal of Neuromuscular Diseases
Cheryl A Smith, Laurie Gutmann
Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy. It is a multisystem disorder with a complex pathophysiology. Although inheritance is autosomal dominant, disease variability is attributed to anticipation, a maternal expansion bias, variable penetrance, somatic mosaicism, and a multitude of aberrant pre-mRNA splicing events. Patient presentations range from asymptomatic or mild late onset adult to severe congenital forms. Multiple organ systems may be affected. Patients may experience early cataracts, myotonia, muscle weakness/atrophy, fatigue, excessive daytime sleepiness, central/obstructive apnea, respiratory failure, cardiac arrhythmia, insulin resistance, dysphagia, GI dysmotility, cognitive impairment, Cluster C personality traits, and/or mood disorders...
December 2016: Current Treatment Options in Neurology
Shiro Matsubara, Toshio Shimizu, Takashi Komori, Madoka Mori-Yoshimura, Narihiro Minami, Yukiko K Hayashi
A middle-aged Japanese man presented with slowly progressive asymmetric weakness of legs and arm but had neither ptosis nor dysphagia. He had a family history of similar condition suggestive of autosomal dominant inheritance. A muscle biopsy showed mixture of neurogenic atrophy and myopathy with rimmed vacuoles. Furthermore we found intranuclear inclusions that had a fine structure mimicking that of inclusions reported in oculopharyngeal muscular dystrophy (OPMD). Immunohistochemical staining for polyadenylate-binding nuclear protein 1, which is identified within the nuclear inclusions of OPMD, demonstrated nuclear positivity in this case...
July 2016: Neuromuscular Disorders: NMD
L van den Engel-Hoek, I J M de Groot, L T Sie, H W van Bruggen, S A F de Groot, C E Erasmus, N van Alfen
Dysphagia in Duchenne muscular dystrophy (DMD) worsens with age, with increasingly effortful mastication. The aims of this study were to describe mastication problems in consecutive stages in a group of patients with DMD and to determine related pathophysiological aspects of masticatory muscle structure, tongue thickness, bite force and dental characteristics. Data from 72 patients with DMD (4.3 to 28.0 years), divided into four clinical stages, were collected in a cross sectional study. Problems with mastication and the need for food adaptations, in combination with increased echogenicity of the masseter muscle, were already found in the early stages of the disease...
June 2016: Neuromuscular Disorders: NMD
Taku Oishi, Tetsuya Sato, Kenshi Matsushita, Tomoki Takechi, Nobuyuki Murakami, Mikiya Fujieda
We report a case of X-linked myotubular myopathy with chylothorax. A male infant weighing 2,114 g was born to a mother whose pregnancy was complicated with polyhydramnios from gestational week 32. At gestational week 37, emergent caesarian section was performed due to membrane rupture followed by fetal bradycardia. Ventilatory support was necessary because the neonate showed severe birth asphyxia accompanied by hypotonia and dyspnea. He also showed a respiratory complication of chylothorax at 10 days old; therefore, thoracic drainage was performed...
January 2016: No to Hattatsu. Brain and Development
Katherine Jones, Robert D S Pitceathly, Michael R Rose, Susan McGowan, Marguerite Hill, Umesh A Badrising, Tom Hughes
BACKGROUND: Normal swallowing function is divided into oral, pharyngeal, and oesophageal phases. The anatomy and physiology of the oral cavity facilitates an oral preparatory phase of swallowing, in which food and liquid are pushed towards the pharynx by the tongue. During pharyngeal and oesophageal phases of swallowing, food and liquid are moved from the pharynx to the stomach via the oesophagus. Our understanding of swallowing function in health and disease has informed our understanding of how muscle weakness can disrupt swallowing in people with muscle disease...
February 9, 2016: Cochrane Database of Systematic Reviews
Celine Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne-Laure Bedat-Millet, Anthony Behin, Remi Bellance, Françoise Bouhour, Celia Boutte, François Boyer, Emmanuelle Campana-Salort, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valerie Drouin-Garraud, Xavier Ferrer, Helene Gervais-Bernard, Karima Ghorab, Pascal Laforet, Armelle Magot, Laurent Magy, Dominique Menard, Marie-Christine Minot, Aleksandra Nadaj-Pakleza, Sybille Pellieux, Yann Pereon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Sole, Tanya Stojkovich, Vincent Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K Gherardi, Bruno Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez
BACKGROUND: Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor determining the age of onset although no factor can finely predict phenotype and prognosis. Differences between males and females have not been specifically reported. Our aim is to study gender impact on DM1 phenotype and severity...
2016: PloS One
Michel Toussaint, Zoe Davidson, Veronique Bouvoie, Nathalie Evenepoel, Jurn Haan, Philippe Soudon
PURPOSE: Duchenne muscular dystrophy (DMD) is a rapidly progressive neuromuscular disorder causing weakness of the skeletal, respiratory, cardiac and oropharyngeal muscles with up to one third of young men reporting difficulty swallowing (dysphagia). Recent studies on dysphagia in DMD clarify the pathophysiology of swallowing disorders and offer new tools for its assessment but little guidance is available for its management. This paper aims to provide a step-by-step algorithm to facilitate clinical decisions regarding dysphagia management in this patient population...
October 2016: Disability and Rehabilitation
Inka Albrecht, Cecilia Wick, Åsa Hallgren, Anna Tjärnlund, Kanneboyina Nagaraju, Felipe Andrade, Kathryn Thompson, William Coley, Aditi Phadke, Lina-Marcela Diaz-Gallo, Matteo Bottai, Inger Nennesmo, Karine Chemin, Jessica Herrath, Karin Johansson, Anders Wikberg, A Jimmy Ytterberg, Roman A Zubarev, Olof Danielsson, Olga Krystufkova, Jiri Vencovsky, Nils Landegren, Marie Wahren-Herlenius, Leonid Padyukov, Olle Kämpe, Ingrid E Lundberg
Mutations of the gene encoding four-and-a-half LIM domain 1 (FHL1) are the causative factor of several X-linked hereditary myopathies that are collectively termed FHL1-related myopathies. These disorders are characterized by severe muscle dysfunction and damage. Here, we have shown that patients with idiopathic inflammatory myopathies (IIMs) develop autoimmunity to FHL1, which is a muscle-specific protein. Anti-FHL1 autoantibodies were detected in 25% of IIM patients, while patients with other autoimmune diseases or muscular dystrophies were largely anti-FHL1 negative...
December 2015: Journal of Clinical Investigation
Matteo Garibaldi, Elena Maria Pennisi, Mirella Bruttini, Veronica Bizzarri, Elisabetta Bucci, Stefania Morino, Caterina Talerico, Antonella Stoppacciaro, Alessandra Renieri, Giovanni Antonini
A 69-year-old woman presented a dropped head, caused by severe neck extensor weakness that had started two years before. She had also developed a mild degree of dysphagia, rhinolalia, eyelid ptosis and proximal limb weakness during the last months. EMG revealed myopathic changes. Muscle MRI detected fatty infiltration in the posterior neck muscles and tongue. Muscle biopsy revealed fiber size variations, sporadic rimmed vacuoles, small scattered angulated fibers and a patchy myofibrillar network. Genetic analysis revealed homozygous (GCN)11 expansions in the PABPN1 gene that were consistent with recessive oculopharyngeal muscular dystrophy (OPMD)...
November 2015: Neuromuscular Disorders: NMD
Sarah Youssof
INTRODUCTION: Oculopharyngeal muscular dystrophy (OPMD) causes ptosis, dysphagia, and limb weakness. Health-related quality of life (HRQoL) and its relationship to physical symptoms was investigated. METHODS: The 36-item Short Form (SF-36) was completed by 89 participants in the U.S. OPMD Registry. Multiple hierarchical regression was used to determine the relative contributions of dysphagia severity and lower extremity functional impairment to the physical (PCS) and mental (MCS) components of the SF-36...
May 2016: Muscle & Nerve
Tai-Seung Nam, Wenting Li, Suk-Hee Heo, Kyung-Hwa Lee, Anna Cho, Jin-Hong Shin, Young Ok Kim, Jong-Hee Chae, Dae-Seong Kim, Myeong-Kyu Kim, Seok-Yong Choi
To identify and characterize genetic mutation in a Korean family with limb-girdle muscular dystrophy 1 (LGMD1), we analyzed in the affected family members clinical features, DNAJB6 by Sanger sequencing, muscle structures by magnetic resonance imaging (MRI), and functional consequences of the identified mutation using a zebrafish model. The clinical phenotypes along with identification of a novel c.271T > C (p.(Phe91Leu)) mutation in DNAJB6 led to the diagnosis of LGMD1D in the affected family members...
November 2015: Neuromuscular Disorders: NMD
M Jungheim, D Kühn, M Ptok
BACKGROUND: Patients with myotonic dystrophy (MD) are known to suffer from oropharyngeal dysphagia and esophageal motility disorders, which are often the cause of aspiration pneumonia. So far only little is known about the pharyngeal contractility and the function of the upper esophageal sphincter in these patients, in particular only few data are available for manometric investigations allowing assessment of the pharyngeal pressure build-up during swallowing. The aim of this study was to collect such data in patients with MD using high resolution manometry...
August 2015: Der Nervenarzt
Ariadna Bargiela, Estefanía Cerro-Herreros, Juan M Fernandez-Costa, Juan J Vilchez, Beatriz Llamusi, Ruben Artero
Muscle mass wasting is one of the most debilitating symptoms of myotonic dystrophy type 1 (DM1) disease, ultimately leading to immobility, respiratory defects, dysarthria, dysphagia and death in advanced stages of the disease. In order to study the molecular mechanisms leading to the degenerative loss of adult muscle tissue in DM1, we generated an inducible Drosophila model of expanded CTG trinucleotide repeat toxicity that resembles an adult-onset form of the disease. Heat-shock induced expression of 480 CUG repeats in adult flies resulted in a reduction in the area of the indirect flight muscles...
July 1, 2015: Disease Models & Mechanisms
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